%0 Journal Article
%T Importance of TP53 codon 72 and intron 3 duplication 16bp polymorphisms in prediction of susceptibility on breast cancer
%A Sandra Costa
%A Daniela Pinto
%A Deolinda Pereira
%A Helena Rodrigues
%A Jorge Cameselle-Teijeiro
%A Rui Medeiros
%A Fernando Schmitt
%J BMC Cancer
%D 2008
%I BioMed Central
%R 10.1186/1471-2407-8-32
%X We analysed DNA samples from 264 breast cancer patients and 440 controls, for TP53 Arg72Pro and PIN3 Ins16bp polymorphisms using PCR-RFLP.We observed that women with A2A2 genotype have increased risk for developing breast cancer, either in women with or without familial history (FH) of the disease (OR = 4.40, 95% CI 1.60¨C12.0; p = 0.004; OR = 3.88, 95% CI 1.18¨C12.8; p = 0.026, respectively). In haplotype analysis, statistically significant differences were found between TP53 Arg-A2 haplotype frequencies and familial breast cancer cases and the respective control group (OR = 2.10, 95% CI 1.08¨C4.06; p = 0.028). Furthermore, both TP53 polymorphisms are associated with higher incidence of lymph node metastases.Our findings suggest TP53 PIN3 Ins16bp polymorphism as a real risk modifier in breast cancer disease, either in sporadic and familial breast cancer. Furthermore, both TP53 polymorphisms are associated with higher incidence of lymph node metastases.Breast cancer have been associated with well-established risk factors, such as high estrogen exposure, environmental factors (e. g. diet and ionizing radiation) and family history [1,2]. Family history of breast cancer is a particularly important high risk factor for this disease. Two genes were identified as the major susceptibility genes in high risk families, namely BRCA1 and BRCA2. However, these genes account for only a minority of the overall family risk of breast cancer [3]. Furthermore, approximately only 10% of all breast cancer cases exhibit a familial pattern of incidence [4,5]. In this way, the remaining familial and sporadic risk may be due to common low to moderate penetrance genetic variants, which are also referred as genetic polymorphisms. One strong candidate for genetic susceptibility factor to familial and/or sporadic breast cancer is the TP53 gene. This gene is frequently somatically mutated in breast cancer [6,7] and TP53 germline mutations are associated with increased risk for developing diverse m
%U http://www.biomedcentral.com/1471-2407/8/32